{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["POLRA","RPB1"],"biotype":"protein_coding","hgnc_id":"HGNC:9187","gene_name":"RNA polymerase II subunit A","omim_gene":["180660"],"alias_name":["DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit","RNA polymerase II subunit B1"],"gene_symbol":"POLR2A","hgnc_symbol":"POLR2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7387685-7417933","ensembl_id":"ENSG00000181222"}},"GRch38":{"90":{"location":"17:7484366-7514616","ensembl_id":"ENSG00000181222"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"POLR2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["31353023"],"evidence":["Expert Review Green","DD-Gene2Phenotype"],"phenotypes":["SYNDROMIC INTELLECTUAL DISABILITY 612100"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":484,"hash_id":null,"name":"DDG2P","disease_group":"","disease_sub_group":"","status":"public","version":"1.137","version_created":"2019-10-08T15:56:59.220133Z","relevant_disorders":[],"stats":{"number_of_genes":1893,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["POLRA","RPB1"],"biotype":"protein_coding","hgnc_id":"HGNC:9187","gene_name":"RNA polymerase II subunit A","omim_gene":["180660"],"alias_name":["DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit","RNA polymerase II subunit B1"],"gene_symbol":"POLR2A","hgnc_symbol":"POLR2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7387685-7417933","ensembl_id":"ENSG00000181222"}},"GRch38":{"90":{"location":"17:7484366-7514616","ensembl_id":"ENSG00000181222"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"POLR2A","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["31353023"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Global developmental delay","Generalized hypotonia","Feeding difficulties"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":285,"hash_id":"558aa423bb5a16630e15b63c","name":"Intellectual disability","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"2.1065","version_created":"2019-10-07T13:42:16.019766Z","relevant_disorders":["Coarse facial features including Coffin-Siris-like disorders","ID","Moderate","severe or profound intellectual disability","Schizophrenia plus additional features","Intellectual disability - microarray","fragile X and sequencing"],"stats":{"number_of_genes":2253,"number_of_strs":11,"number_of_regions":57},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}}]}